scholarly journals Mutant MiRP1 subunits modulate HERG K+ channel gating: a mechanism for pro-arrhythmia in long QT syndrome type 6

2003 ◽  
Vol 551 (1) ◽  
pp. 253-262 ◽  
Author(s):  
Y. Lu ◽  
M. P Mahaut-Smith ◽  
C. L-H Huang ◽  
J. I Vandenberg
Keyword(s):  
Long Qt Syndrome ◽  
Channel Gating ◽  
K Channel ◽  
Syndrome Type ◽  
Long Qt ◽  
Qt Syndrome

scholarly journals A novel KCNH2 frameshift mutation (c.46delG) associated with high risk of sudden death in a family with congenital long QT syndrome type 2

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Hyun Sok Yoo ◽  
Nancy Medina ◽  
María Alejandra von Wulffen ◽  
Natalia Ciampi ◽  
Analia Paolucci ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Long Qt Syndrome ◽  
Cardiac Death ◽  
Frameshift Mutation ◽  
Alpha Subunit ◽  
Syndrome Type ◽  
Long Qt ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome

Abstract Background The congenital long QT syndrome type 2 is caused by mutations in KCNH2 gene that encodes the alpha subunit of potassium channel Kv11.1. The carriers of the pathogenic variant of KCNH2 gene manifest a phenotype characterized by prolongation of QT interval and increased risk of sudden cardiac death due to life-threatening ventricular tachyarrhythmias. Results A family composed of 17 members with a family history of sudden death and recurrent syncopes was studied. The DNA of proband with clinical manifestations of long QT syndrome was analyzed using a massive DNA sequencer that included the following genes: KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, ANK2, KCNJ2, CACNA1, CAV3, SCN1B, SCN4B, AKAP9, SNTA1, CALM1, KCNJ5, RYR2 and TRDN. DNA sequencing of proband identified a novel pathogenic variant of KCNH2 gene produced by a heterozygous frameshift mutation c.46delG, pAsp16Thrfs*44 resulting in the synthesis of a truncated alpha subunit of the Kv11.1 ion channel. Eight family members manifested the phenotype of long QT syndrome. The study of family segregation using Sanger sequencing revealed the identical variant in several members of the family with a positive phenotype. Conclusions The clinical and genetic findings of this family demonstrate that the novel frameshift mutation causing haploinsufficiency can result in a congenital long QT syndrome with a severe phenotypic manifestation and an elevated risk of sudden cardiac death.

Diagnosis of epilepsy using an implantable loop recorder in a child with long-QT syndrome type 3

2013 ◽  
Vol 55 (2) ◽  
pp. 251-253 ◽  
Author(s):  
Kazuhiro Takahashi ◽  
Akira Miyake ◽  
Yoshimitsu Otsuka ◽  
Masaharu Ohfu ◽  
Hitoshi Ganaha
Keyword(s):  
Long Qt Syndrome ◽  
Syndrome Type ◽  
Implantable Loop Recorder ◽  
Long Qt ◽  
Loop Recorder ◽  
Qt Syndrome ◽  
Type 3

scholarly journals Association of the hERG mutation with long-QT syndrome type 2, syncope and epilepsy

2016 ◽  
Vol 13 (3) ◽  
pp. 2467-2475 ◽  
Author(s):  
GUOLIANG LI ◽  
RUI SHI ◽  
JINE WU ◽  
WENQI HAN ◽  
AIFENG ZHANG ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Syndrome Type ◽  
Long Qt ◽  
Qt Syndrome

scholarly journals Complexity of ranolazine and phenytoin use in an infant with long QT syndrome type 3

2017 ◽  
Vol 3 (1) ◽  
pp. 104-108 ◽  
Author(s):  
Reina Bianca Tan ◽  
Sujata Chakravarti ◽  
Melissa Busovsky-McNeal ◽  
Abigail Walsh ◽  
Frank Cecchin
Keyword(s):  
Long Qt Syndrome ◽  
Syndrome Type ◽  
Long Qt ◽  
Qt Syndrome ◽  
Type 3
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